Published in

Springer Nature [academic journals on nature.com], Human Genome Variation, 1(9), 2022

DOI: 10.1038/s41439-022-00184-y

Links

Tools

Export citation

Search in Google Scholar

Two novel heterozygous variants in ATP1A3 cause movement disorders

This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

Full text: Download

Green circle
Preprint: archiving allowed
Red circle
Postprint: archiving forbidden
Green circle
Published version: archiving allowed
Data provided by SHERPA/RoMEO

Abstract

AbstractVariants in ATP1A3 cause neuropsychiatric disorders, especially those characterized by movement disorders. In this study, we performed whole exome sequencing for two patients with movement disorders and identified two novel heterozygous ATP1A3 variants, a missense c.2408G>A variant and an indel c.2672_2688+10delinsCAG variant. The unique indel variant occurred at the exon-intron boundary at the 3′ end of exon 19, and mRNA analysis revealed that this variant caused in-frame indel alteration at the Ser891_Trp896 residue.